Syndromic X-Linked Intellectual Disability 17
Disease ID: disease_node_13619
Connections displayed (default: 10).
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| Dbxref | MIM:300858, ORDO:289483 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Synonyms | X-linked mental retardation with alacrima and achalasia, intellectual disability-alacrima-achalasia syndrome, mental retardation, X-linked, syndromic 17 |
| Doid Label | syndromic X-linked intellectual disability 17 |
| Doid Description | A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13619 |
| Doid Id | DOID_0060803 |
| Label | Syndromic X-Linked Intellectual Disability 17 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)